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Congenital cataract

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https://www.readbyqxmd.com/read/29159459/epg5-related-vici-syndrome-a-primary-defect-of-autophagic-regulation-with-an-emerging-phenotype-overlapping-with-mitochondrial-disorders
#1
Shanti Balasubramaniam, Lisa G Riley, Anand Vasudevan, Mark J Cowley, Velimir Gayevskiy, Carolyn M Sue, Caitlin Edwards, Edward Edkins, Reimar Junckerstorff, C Kiraly-Borri, P Rowe, J Christodoulou
Vici syndrome is a rare, under-recognised, relentlessly progressive congenital multisystem disorder characterised by five principal features of callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and oculocutaneous hypopigmentation. In addition, three equally consistent features (profound developmental delay, progressive failure to thrive and acquired microcephaly) are highly supportive of the diagnosis. Since its recognition as a distinct entity in 1988, an extended phenotype with sensorineural hearing loss, skeletal myopathy and variable involvement of virtually any organ system, including the lungs, thyroid, liver and kidneys, have been described...
November 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29156465/-pseudophacic-additive-lenses
#2
Fritz H Hengerer, Ina Conrad-Hengerer
Implantation of artificial intraocular lenses (IOL) after cataract removal today represents the standard of care in the field of anterior segment surgery. In refractive lens exchange cases the natural lens is replaced by an IOL to correct different types of refractive situations. In the majority of the operations the refractive result is satisfying with only few deviations from target refraction.But daily practice reveals some outliers from the intended corrections with the need for further refractive enhancements, respectively...
November 20, 2017: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/29151681/incidence-and-risk-factors-of-early-onset-glaucoma-following-pediatric-cataract-surgery-in-egyptian-children-one-year-study
#3
Ghada I Gawdat, Maha M Youssef, Nermeen M Bahgat, Dina M Elfayoumi, Mohamed As Eddin
Aim: To study the incidence and risk factors of glaucoma occurring within 1 year following pediatric cataract surgery in Egyptian children. Materials and methods: This is a prospective nonrandomized study conducted at Aburich Children's Hospital, over a period of 1 year on a cohort of Egyptian patients with congenital and infantile cataract. One hundred and fifty eyes of 88 patients were enrolled in this study. All the patients underwent anterior approach removal of lens matter, whereas primary intraocular lens (IOL) implantation was carried at the age of 1 and 2 years for unilateral and bilateral cases respectively...
September 2017: Journal of Current Glaucoma Practice
https://www.readbyqxmd.com/read/29141391/-research-updates-on-glaucoma-after-congenital-cataract-surgery
#4
M R Yu, Y Luo
Postoperative glaucoma is one of the most common complications after congenital cataract surgery and an important cause of unsatisfactory long-term visual acuity rehabilitation. Recently, the diagnostic criteria of glaucoma after congenital cataract surgery have been gradually complemented; the measurement of intraocular pressure is improved and the follow-up is standardized. The risk factors of glaucoma after congenital cataract surgery include age at surgery, ocular abnormalities and central corneal thickness, some of which still remain controversial...
November 11, 2017: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/29141386/-clinical-characteristics-and-surgical-effect-observation-of-congenital-aniridia-combined-with-cataract
#5
X H Wu, Q Z Cao, Y X Hu, J N Lin, H T Lin, W R Chen, Y Z Liu
Objective: To analyze the clinical manifestations, surgical approaches and postoperative prognosis for the cases of congenital aniridia combined with cataract. Methods: In this retrospective case series, 26 patients diagnosed with congenital aniridia combined with cataract were collected from Zhongshan Ophthalmic Center from February 2002 to August 2016. The Clinical data were collected to analyze the clinical features, surgical approaches and postoperative prognosis. T-test was used for statistical analysis...
November 11, 2017: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/29140751/further-delineation-of-the-oculoauricular-syndrome-phenotype-a-new-family-with-a-novel-truncating-hmx1-mutation
#6
Ghada M H Abdel-Salam, Mohamed S Abdel-Hamid, Mennat I Mehrez, Ahmad M Kamal, Mohamed B Taher, Hanan H Afifi
Biallelic HMX1 mutations cause a very rare autosomal recessive genetic disorder termed as oculoauricular syndrome (OAS) because it is characterized only by the combination of eye and ear anomalies. We identified a new family bringing to three the total families reported with this disorder. Our proband presented with anteriorly protruded ears and malformed ear pinnae in association with microphthalmia, congenital cataract, microcornea, and iris and optic disc colobomata. Additionally, he had high and broad forehead with asymmetry giving a recognizable facial gestalt...
November 15, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29132486/opticard-an-inexpensive-and-portable-method-of-bedside-direct-fundoscopy
#7
Muhammad Tauseef Omer, Efra Abbas
The use of fundoscopy to observe and grade retinal changes in diabetes and hypertension is well known. Fundus screening is recommended prior to discharge of every neonate from the neonatal unit to rule out congenital cataract. However, the traditional direct fundoscopes are expensive and, therefore, not available in majority of the hospitals in developing countries. Also, fundoscopy needs special expertise to use the device. OptiCard is an inexpensive new method of direct fundoscopy that allows visualization of retina and optic disc with or without the use of cell phone...
November 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/29131913/unilateral-congenital-cataract-clinical-profile-and-presentation
#8
Sudarshan Khokhar, Cijin P Jose, Ramanjit Sihota, Neha Midha
PURPOSE: To study the clinical profile and presentation of children with unilateral cataract. METHODS: In this hospital-based, observational, cross-sectional study, patients 15 years of age or younger who presented with unilateral cataract were recruited. Cases of cataract secondary to causes such as trauma or uveitis were excluded. Age at detection and presentation, distance from the treatment center, presenting complaints, cataract morphology, and biometry were noted for each case...
November 11, 2017: Journal of Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/29122822/posterior-keratoconus
#9
REVIEW
Megan R Silas, Sarah M Hilkert, James J Reidy, Asim V Farooq
Posterior keratoconus (PKC) is a rare, typically non-inflammatory condition that is characterised by an abnormal posterior corneal curvature, which may be accompanied by overlying stromal opacification. It is usually congenital and can be associated with other ocular and systemic abnormalities. PKC remains a clinical diagnosis, although imaging techniques including ultrasound biomicroscopy and anterior segment optical coherence tomography may be useful tools for confirmation and classification. Genetic studies should be considered, although no specific genetic defects have been identified thus far...
November 9, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/29112131/juvenile-onset-diabetes-and-congenital-cataract-double-gene-mutations-mimicking-a-syndromic-diabetes-presentation
#10
Caroline Lenfant, Patrick Baz, Anne Degavre, Anne Philippi, Valérie Senée, Claire Vandiedonck, Céline Derbois, Marc Nicolino, Pierre Zalloua, Cécile Julier
Monogenic forms of diabetes may account for 1-5% of all cases of diabetes, and may occur in the context of syndromic presentations. We investigated the case of a girl affected by insulin-dependent diabetes, diagnosed at 6 years old, associated with congenital cataract. Her consanguineous parents and her four other siblings did not have diabetes or cataract, suggesting a recessive syndrome. Using whole exome sequencing of the affected proband, we identified a heterozygous p.R825Q ABCC8 mutation, located at the exact same amino-acid position as the p...
November 7, 2017: Genes
https://www.readbyqxmd.com/read/29103558/disease-and-surgery-of-the-equine-lens
#11
REVIEW
Wendy M Townsend
Examination of the lens is critical, particularly when evaluating horses with visual impairment or performing prepurchase examinations. To adequately evaluate the lens, the pupil must be pharmacologically dilated. A cataract is any lens opacity. The size, density, and position of a cataract determine the impact on vision. Cataracts may be congenital or inherited or occur secondary to trauma or equine recurrent uveitis. Surgical removal is the only treatment option for vision impairing cataracts, but careful selection of surgical candidates is critical for successful outcomes...
December 2017: Veterinary Clinics of North America. Equine Practice
https://www.readbyqxmd.com/read/29101006/corneal-abnormalities-in-congenital-aniridia-congenital-central-corneal-opacity-vs-aniridia-associated-keratopathy
#12
Hyo Kyung Lee, Mee Kum Kim, Joo Youn Oh
PURPOSE: To clinically characterize and compare two types of corneal abnormalities in patients with congenital aniridia: 1) congenital central corneal opacity from birth (CCO) and 2) aniridia-associated keratopathy (AAK) that develops progressively with age. DESIGN: Retrospective cohort study. METHODS: Medical records of Korean patients who were diagnosed with congenital aniridia at Seoul National University Hospital between 1991 and 2016 were reviewed...
October 31, 2017: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/29077177/mobile-femtosecond-laser-platform-for-pediatric-cataract-surgery
#13
Simon S M Fung, John Brookes, Mark R Wilkins, Gillian G W Adams
PURPOSE: To describe the use of a mobile femtosecond laser platform in assisting paediatric cataract surgery. METHODS: A mobile femtosecond laser was brought into the operating room and calibrated on the day of the surgery. After general anesthesia is induced, the femtosecond laser was docked onto the eyes with a liquid-filled interface, without any perioperative adaptations or additional surgical procedures. An anterior capsulotomy was created with the femtosecond laser, followed by conventional cataract extraction and intraocular lens implantation...
October 26, 2017: European Journal of Ophthalmology
https://www.readbyqxmd.com/read/29075018/impact-of-healthcare-strategies-on-patterns-of-paediatric-sight-impairment-in-a-developed-population-1984-2011
#14
K Shirley, S Chamney, P Satkurunathan, S McLoone, E McLoone
PurposeThe aim of our study was to analyse paediatric sight-impairment trends in Northern Ireland (NI) over a 28-year period to better understand the impact which changes in health-care provision may be having on childhood blindness and to enable us to assess our progress towards achieving the World Health Organisation (WHO) aims.MethodsA database of Certificates of Visual Impairment completed for NI children aged <16 years was used to determine the cause of sight impairment from 1984 to 2011. Causes were classified into preventable or treatable conditions and analysed for trends...
November 2017: Eye
https://www.readbyqxmd.com/read/29069416/importance-of-the-positively-charged-residue-at-position-54-to-the-chaperoning-function-conformational-stability-and-amyloidogenic-nature-of-human-%C3%AE-a-crystallin
#15
Kazem Khoshaman, Reza Yousefi, Ali Niazi, Ahmad Oryan, Ali Akbar Moosavi-Movahedi, Boris I Kurganov
Arginine 54 (R54) in αA-Crystallin (αA-Cry) is highly conserved within different species. Recently, three missense mutations at this hot spot position have been reported to cause congenital cataract disorders. To investigate the impact of charge on structural and functional aspects of αA-Cry, R54 was individually substituted with lysine and aspartate. Replacement of R54 with the positively and negatively charged residues led to structural alteration and reduction in the protein conformational and proteolytic stability...
October 23, 2017: Journal of Biochemistry
https://www.readbyqxmd.com/read/29068106/clinical-profile-of-congenital-rubella-syndrome-in-yogyakarta-indonesia
#16
Elisabeth S Herini, Gunadi, Agung Triono, Fita Wirastuti, Kristy Iskandar, Niprida Mardin, Yati Soenarto
BACKGROUND: Congenital rubella syndrome (CRS) has many severe neurological manifestations and other systemic consequences in patients. Although various studies have been done in Indonesia, there have not been any conclusive results on CRS incidence. Therefore, we aimed to investigate the incidence, clinical manifestations and outcomes of CRS in Yogyakarta, Indonesia. METHODS: A descriptive study involving a review of congenital anomalies associated with CRS cases at Dr...
October 25, 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/29058245/ocular-findings-in-a-patient-with-oculofaciocardiodental-ofcd-syndrome-and-a-novel-bcor-pathogenic-variant
#17
Yujia Zhou, Antonina Wojcik, Victoria R Sanders, Bahram Rahmani, Sudhi P Kurup
PURPOSE: To report a case of OFCD associated with a de novo BCOR pathogenic variant and highlight the ocular findings and possible mechanisms. METHODS: A retrospective chart review of the patient's ocular and systemic findings was performed. The patient underwent diagnostic whole exome sequencing (WES). RESULTS: The patient had a comprehensive eye exam in infancy demonstrating bilateral congenital cataracts consisting of posterior lenticonus with a posterior cortical opacity...
October 22, 2017: International Ophthalmology
https://www.readbyqxmd.com/read/29053488/causes-of-childhood-vision-impairment-in-the-school-for-the-blind-in-eritrea
#18
Rajendra Gyawali, Vanessa R Moodley
SIGNIFICANCE: Our study provides the much-needed evidence on causes of childhood blindness in Eritrea. This will assist authorities to plan appropriate strategies and implement preventive, curative, and rehabilitative services to address these causes of vision loss in children in this resource-limited country. PURPOSE: This study aims to identify the causes of severe vision impairment and blindness in children attending the only school for the blind in Eritrea. METHODS: All children enrolled in the school were examined, and the World Health Organization form for the examination of visually impaired children was used to record the data...
October 19, 2017: Optometry and Vision Science: Official Publication of the American Academy of Optometry
https://www.readbyqxmd.com/read/29044088/management-of-idiopathic-intracranial-hypertension-in-an-infant-with-bilateral-congenital-cataract-and-associated-comitant-sensory-esotropia
#19
Jyoti Himanshu Matalia, Sheetal Shirke, Hemant Anaspure, Pooja Ghalla, Minal Kekatpure
In this report, we describe the management of a child with bilateral cataract, nystagmus, and comitant sensory esotropia. Routine ultrasonography done before cataract surgery revealed bilateral disc edema confirmed as idiopathic intracranial hypertension by a pediatric neurologist. The primary intervention for cataract surgery was followed by nonresolving papilledema, despite maximum medical therapy. To salvage the optic nerve function in a nonverbal child, bilateral optic nerve sheath decompression was planned with simultaneous medial rectus recessions for the persistent esotropia with the satisfactory postoperative outcome...
October 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/29042737/nance-horan-syndrome-a-rare-case-report
#20
Shambhu Sharma, Pankaj Datta, Janak Raj Sabharwal, Sonia Datta
Dentofacial anomalies may guide us to the diagnosis of many congenital and hereditary syndromes. A 9-year-old boy was diagnosed with Nance-Horan syndrome. This syndrome is an extremely rare X-linked genetic disorder which is entirely expressed in males with semi-dominant transmission which results from mutations occurring in male gametes. It is characterized by facial dysmorphism such as long face, prominent nose and mandibular prognathism, ocular abnormalities such as congenital cataract, microcornea, microphthalmia and strabismus, and dental anomalies including mulberry molars and screwdriver-shaped incisors...
July 2017: Contemporary Clinical Dentistry
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